Incidental Mutation 'R5093:Hfm1'
ID 387917
Institutional Source Beutler Lab
Gene Symbol Hfm1
Ensembl Gene ENSMUSG00000043410
Gene Name HFM1, ATP-dependent DNA helicase homolog
Synonyms LOC381663, A330009G12Rik, Mer3, Sec63d1
MMRRC Submission 042682-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5093 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 106840192-106926321 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106901731 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 455 (S455T)
Ref Sequence ENSEMBL: ENSMUSP00000112590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112690] [ENSMUST00000117588] [ENSMUST00000148686] [ENSMUST00000200249]
AlphaFold D3Z4R1
Predicted Effect probably damaging
Transcript: ENSMUST00000112690
AA Change: S455T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108310
Gene: ENSMUSG00000043410
AA Change: S455T

DomainStartEndE-ValueType
DEXDc 276 490 3.66e-29 SMART
HELICc 571 657 1.56e-14 SMART
low complexity region 751 764 N/A INTRINSIC
Sec63 775 1090 5.66e-60 SMART
Blast:Sec63 1130 1188 2e-18 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000117588
AA Change: S455T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112590
Gene: ENSMUSG00000043410
AA Change: S455T

DomainStartEndE-ValueType
DEXDc 276 490 3.66e-29 SMART
HELICc 571 657 1.56e-14 SMART
low complexity region 751 764 N/A INTRINSIC
Sec63 775 1090 5.66e-60 SMART
Blast:Sec63 1130 1188 2e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137795
Predicted Effect probably benign
Transcript: ENSMUST00000148686
Predicted Effect probably benign
Transcript: ENSMUST00000200249
SMART Domains Protein: ENSMUSP00000142727
Gene: ENSMUSG00000043410

DomainStartEndE-ValueType
Pfam:ResIII 260 410 9.9e-7 PFAM
Pfam:DEAD 281 410 1.5e-19 PFAM
Meta Mutation Damage Score 0.5176 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (90/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]
PHENOTYPE: Meiosis ais disrupted in homozygotes and bothe sexes are sterile [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,474,037 (GRCm38) probably benign Het
Abca9 A T 11: 110,141,532 (GRCm38) L753Q probably damaging Het
Acvrl1 A G 15: 101,134,747 (GRCm38) probably null Het
Adgrv1 A T 13: 81,592,585 (GRCm38) N141K probably damaging Het
Aftph C T 11: 20,709,619 (GRCm38) probably null Het
Aifm1 C T X: 48,482,760 (GRCm38) G371S probably benign Het
Aldh3b2 A G 19: 3,979,433 (GRCm38) M269V probably benign Het
Ankrd44 T C 1: 54,763,718 (GRCm38) Y207C probably damaging Het
Arhgap15 G T 2: 44,322,755 (GRCm38) M412I probably damaging Het
Auts2 A C 5: 131,439,458 (GRCm38) L783R probably damaging Het
Baiap2l1 A T 5: 144,278,553 (GRCm38) Y381N probably damaging Het
Baiap3 T C 17: 25,250,269 (GRCm38) D180G probably damaging Het
Cant1 T C 11: 118,411,212 (GRCm38) Y93C probably damaging Het
Catsperg2 T C 7: 29,716,998 (GRCm38) S330G probably benign Het
Ccdc73 A T 2: 105,017,766 (GRCm38) probably benign Het
Cdc5l A T 17: 45,393,041 (GRCm38) F752L possibly damaging Het
Celsr2 G T 3: 108,413,373 (GRCm38) H708N possibly damaging Het
Cep170 T A 1: 176,769,330 (GRCm38) K487M possibly damaging Het
Cerkl A T 2: 79,333,523 (GRCm38) N66K probably damaging Het
Cilk1 G A 9: 78,140,021 (GRCm38) V68I probably benign Het
Clec11a C T 7: 44,304,726 (GRCm38) A268T probably damaging Het
Ctnna2 C A 6: 77,114,929 (GRCm38) probably null Het
Diaph3 C A 14: 86,984,800 (GRCm38) R416L probably damaging Het
Dnmbp T A 19: 43,849,876 (GRCm38) N1170I probably damaging Het
Erbb2 G T 11: 98,427,453 (GRCm38) C505F probably damaging Het
Ercc6 T A 14: 32,567,522 (GRCm38) F904L probably damaging Het
Exo5 C T 4: 120,922,317 (GRCm38) G117D probably damaging Het
F2 CAGAAAG CAG 2: 91,634,957 (GRCm38) probably benign Het
Fbxl5 A G 5: 43,773,554 (GRCm38) Y64H probably damaging Het
Gabra4 T A 5: 71,640,864 (GRCm38) M207L probably damaging Het
Galnt15 T C 14: 32,049,829 (GRCm38) L277P probably damaging Het
Gclm T C 3: 122,255,612 (GRCm38) probably null Het
Gm5493 T A 17: 22,747,228 (GRCm38) C29S possibly damaging Het
Grik3 A G 4: 125,670,589 (GRCm38) T455A probably benign Het
Grm3 A G 5: 9,589,766 (GRCm38) V93A probably benign Het
Hdgfl2 C T 17: 56,099,217 (GRCm38) A535V possibly damaging Het
Hmcn1 T A 1: 150,737,256 (GRCm38) D1424V probably benign Het
Hsd3b6 C T 3: 98,807,804 (GRCm38) V91I probably benign Het
Igdcc4 G A 9: 65,122,757 (GRCm38) S363N possibly damaging Het
Intu T C 3: 40,692,917 (GRCm38) V740A probably benign Het
Itga2 C T 13: 114,856,181 (GRCm38) V838I probably benign Het
Kif9 A G 9: 110,489,897 (GRCm38) E143G probably damaging Het
Kmt2c T A 5: 25,409,207 (GRCm38) I172F probably benign Het
Kmt2d G A 15: 98,856,162 (GRCm38) R21W probably damaging Het
Mdh1b A T 1: 63,711,461 (GRCm38) D449E probably benign Het
Meis1 T C 11: 18,881,785 (GRCm38) I418V probably benign Het
Nags T A 11: 102,146,569 (GRCm38) M162K probably damaging Het
Nufip1 A G 14: 76,110,973 (GRCm38) D14G probably benign Het
Or2l13 T A 16: 19,487,477 (GRCm38) I213N probably damaging Het
Or2n1c A C 17: 38,208,317 (GRCm38) E24A possibly damaging Het
Or7g28 T G 9: 19,360,978 (GRCm38) I126L probably damaging Het
Osmr A C 15: 6,821,079 (GRCm38) V681G probably damaging Het
Paxip1 G T 5: 27,766,284 (GRCm38) Q356K unknown Het
Pcdhac1 T A 18: 37,090,542 (GRCm38) F136Y probably damaging Het
Pla2g6 A G 15: 79,287,128 (GRCm38) V699A probably benign Het
Plcb3 A T 19: 6,966,210 (GRCm38) V107E probably damaging Het
Plch1 T A 3: 63,773,715 (GRCm38) I164F probably damaging Het
Plpp3 A T 4: 105,194,880 (GRCm38) I73F probably damaging Het
Plscr5 G A 9: 92,198,521 (GRCm38) R20Q probably benign Het
Prdm10 G A 9: 31,341,483 (GRCm38) R504Q probably damaging Het
Prss58 T C 6: 40,897,817 (GRCm38) Y30C probably damaging Het
Psg19 T A 7: 18,796,969 (GRCm38) T87S probably benign Het
Ptpn22 T G 3: 103,882,102 (GRCm38) M294R probably benign Het
Rai1 T A 11: 60,188,656 (GRCm38) M1182K probably benign Het
Sez6 T A 11: 77,976,562 (GRCm38) V795D possibly damaging Het
Shcbp1 A G 8: 4,739,214 (GRCm38) V535A possibly damaging Het
Skint9 A G 4: 112,389,250 (GRCm38) Y222H probably benign Het
Slc13a3 T A 2: 165,411,896 (GRCm38) I446F probably damaging Het
Slc2a3 C T 6: 122,737,237 (GRCm38) R57H probably damaging Het
Slc44a4 A G 17: 34,921,243 (GRCm38) D208G probably benign Het
Spata31d1b A T 13: 59,716,024 (GRCm38) N329Y possibly damaging Het
Strbp C T 2: 37,627,487 (GRCm38) R192K probably damaging Het
Tctn3 A T 19: 40,612,104 (GRCm38) L14Q probably damaging Het
Tenm2 T A 11: 36,944,162 (GRCm38) D2V probably damaging Het
Tln2 T G 9: 67,334,314 (GRCm38) K1003T probably benign Het
Tmem63b T C 17: 45,660,874 (GRCm38) E805G probably damaging Het
Trhr A T 15: 44,197,584 (GRCm38) N167Y probably damaging Het
Trpc2 A G 7: 102,095,183 (GRCm38) R721G probably benign Het
Ttn C A 2: 76,870,923 (GRCm38) probably benign Het
Wdr91 A G 6: 34,892,353 (GRCm38) I412T probably damaging Het
Zcchc4 T A 5: 52,796,610 (GRCm38) S211T probably benign Het
Other mutations in Hfm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Hfm1 APN 5 106,902,130 (GRCm38) missense possibly damaging 0.70
IGL01295:Hfm1 APN 5 106,917,606 (GRCm38) missense possibly damaging 0.46
IGL01725:Hfm1 APN 5 106,917,379 (GRCm38) missense probably benign 0.00
IGL01758:Hfm1 APN 5 106,904,793 (GRCm38) missense probably damaging 0.99
IGL01911:Hfm1 APN 5 106,911,544 (GRCm38) missense possibly damaging 0.92
IGL02337:Hfm1 APN 5 106,904,267 (GRCm38) missense possibly damaging 0.81
IGL02472:Hfm1 APN 5 106,873,928 (GRCm38) splice site probably benign
IGL02496:Hfm1 APN 5 106,901,761 (GRCm38) missense probably benign 0.00
IGL02545:Hfm1 APN 5 106,895,287 (GRCm38) missense probably damaging 1.00
IGL02584:Hfm1 APN 5 106,878,662 (GRCm38) splice site probably null
IGL02728:Hfm1 APN 5 106,878,823 (GRCm38) missense probably benign 0.13
IGL02881:Hfm1 APN 5 106,874,252 (GRCm38) missense probably damaging 1.00
IGL03108:Hfm1 APN 5 106,895,934 (GRCm38) unclassified probably benign
IGL03351:Hfm1 APN 5 106,911,575 (GRCm38) nonsense probably null
IGL03353:Hfm1 APN 5 106,856,929 (GRCm38) missense probably damaging 0.99
R0024:Hfm1 UTSW 5 106,856,924 (GRCm38) missense probably benign 0.41
R0024:Hfm1 UTSW 5 106,856,924 (GRCm38) missense probably benign 0.41
R0094:Hfm1 UTSW 5 106,917,478 (GRCm38) missense probably benign
R0633:Hfm1 UTSW 5 106,917,601 (GRCm38) missense possibly damaging 0.56
R0644:Hfm1 UTSW 5 106,898,256 (GRCm38) critical splice donor site probably null
R1078:Hfm1 UTSW 5 106,878,830 (GRCm38) missense probably damaging 1.00
R1120:Hfm1 UTSW 5 106,904,218 (GRCm38) splice site probably benign
R1166:Hfm1 UTSW 5 106,911,411 (GRCm38) missense probably benign 0.00
R1242:Hfm1 UTSW 5 106,874,901 (GRCm38) missense probably damaging 0.99
R1414:Hfm1 UTSW 5 106,872,353 (GRCm38) missense probably benign 0.01
R1450:Hfm1 UTSW 5 106,918,458 (GRCm38) missense probably damaging 0.99
R1529:Hfm1 UTSW 5 106,853,123 (GRCm38) missense probably benign 0.00
R1622:Hfm1 UTSW 5 106,893,523 (GRCm38) missense possibly damaging 0.58
R1710:Hfm1 UTSW 5 106,896,003 (GRCm38) missense probably damaging 0.96
R1710:Hfm1 UTSW 5 106,880,514 (GRCm38) missense probably damaging 1.00
R1757:Hfm1 UTSW 5 106,880,360 (GRCm38) splice site probably null
R1856:Hfm1 UTSW 5 106,847,676 (GRCm38) missense probably benign 0.00
R1984:Hfm1 UTSW 5 106,898,576 (GRCm38) missense probably damaging 0.98
R1985:Hfm1 UTSW 5 106,898,576 (GRCm38) missense probably damaging 0.98
R2040:Hfm1 UTSW 5 106,901,818 (GRCm38) missense probably damaging 1.00
R2122:Hfm1 UTSW 5 106,896,255 (GRCm38) missense probably damaging 1.00
R2426:Hfm1 UTSW 5 106,847,653 (GRCm38) splice site probably null
R2474:Hfm1 UTSW 5 106,872,416 (GRCm38) missense possibly damaging 0.81
R2926:Hfm1 UTSW 5 106,874,282 (GRCm38) nonsense probably null
R2944:Hfm1 UTSW 5 106,872,330 (GRCm38) missense probably damaging 1.00
R3705:Hfm1 UTSW 5 106,892,839 (GRCm38) unclassified probably benign
R4256:Hfm1 UTSW 5 106,904,797 (GRCm38) missense possibly damaging 0.83
R4455:Hfm1 UTSW 5 106,886,508 (GRCm38) splice site probably null
R4538:Hfm1 UTSW 5 106,874,890 (GRCm38) missense possibly damaging 0.47
R4540:Hfm1 UTSW 5 106,874,221 (GRCm38) nonsense probably null
R4591:Hfm1 UTSW 5 106,847,667 (GRCm38) missense probably benign 0.08
R4745:Hfm1 UTSW 5 106,901,843 (GRCm38) missense possibly damaging 0.87
R4747:Hfm1 UTSW 5 106,917,523 (GRCm38) missense probably benign
R4765:Hfm1 UTSW 5 106,842,539 (GRCm38) missense probably benign 0.21
R4821:Hfm1 UTSW 5 106,854,740 (GRCm38) critical splice donor site probably null
R4842:Hfm1 UTSW 5 106,892,751 (GRCm38) missense probably damaging 1.00
R4944:Hfm1 UTSW 5 106,874,213 (GRCm38) missense possibly damaging 0.46
R5399:Hfm1 UTSW 5 106,917,562 (GRCm38) missense possibly damaging 0.91
R5414:Hfm1 UTSW 5 106,902,076 (GRCm38) missense probably damaging 1.00
R5436:Hfm1 UTSW 5 106,892,772 (GRCm38) missense possibly damaging 0.61
R5459:Hfm1 UTSW 5 106,904,763 (GRCm38) missense probably damaging 1.00
R5485:Hfm1 UTSW 5 106,847,662 (GRCm38) critical splice donor site probably null
R5585:Hfm1 UTSW 5 106,911,439 (GRCm38) missense probably benign 0.05
R5631:Hfm1 UTSW 5 106,904,763 (GRCm38) missense probably damaging 1.00
R5705:Hfm1 UTSW 5 106,911,453 (GRCm38) missense probably benign 0.21
R5804:Hfm1 UTSW 5 106,878,589 (GRCm38) splice site probably null
R5959:Hfm1 UTSW 5 106,874,917 (GRCm38) missense probably damaging 1.00
R6046:Hfm1 UTSW 5 106,898,643 (GRCm38) splice site probably null
R6191:Hfm1 UTSW 5 106,886,553 (GRCm38) missense possibly damaging 0.95
R6345:Hfm1 UTSW 5 106,841,638 (GRCm38) missense probably benign
R6580:Hfm1 UTSW 5 106,847,709 (GRCm38) missense probably benign 0.00
R6651:Hfm1 UTSW 5 106,847,687 (GRCm38) missense probably benign 0.00
R6761:Hfm1 UTSW 5 106,895,279 (GRCm38) missense probably damaging 1.00
R6835:Hfm1 UTSW 5 106,878,815 (GRCm38) nonsense probably null
R6891:Hfm1 UTSW 5 106,917,374 (GRCm38) missense possibly damaging 0.49
R6924:Hfm1 UTSW 5 106,850,410 (GRCm38) splice site probably null
R6980:Hfm1 UTSW 5 106,880,477 (GRCm38) missense probably benign 0.31
R7054:Hfm1 UTSW 5 106,896,043 (GRCm38) missense probably benign 0.01
R7058:Hfm1 UTSW 5 106,911,440 (GRCm38) missense probably benign 0.04
R7189:Hfm1 UTSW 5 106,901,703 (GRCm38) critical splice donor site probably null
R7250:Hfm1 UTSW 5 106,904,331 (GRCm38) missense probably benign 0.00
R7376:Hfm1 UTSW 5 106,895,218 (GRCm38) missense possibly damaging 0.95
R7577:Hfm1 UTSW 5 106,896,043 (GRCm38) missense probably benign 0.01
R7636:Hfm1 UTSW 5 106,917,466 (GRCm38) missense probably benign 0.02
R7639:Hfm1 UTSW 5 106,898,475 (GRCm38) missense possibly damaging 0.46
R7639:Hfm1 UTSW 5 106,889,925 (GRCm38) missense probably benign 0.03
R7763:Hfm1 UTSW 5 106,881,861 (GRCm38) missense probably damaging 1.00
R7828:Hfm1 UTSW 5 106,881,791 (GRCm38) critical splice donor site probably null
R7905:Hfm1 UTSW 5 106,898,553 (GRCm38) missense probably damaging 1.00
R8160:Hfm1 UTSW 5 106,896,033 (GRCm38) missense probably null 0.00
R8477:Hfm1 UTSW 5 106,881,818 (GRCm38) missense probably benign 0.01
R8739:Hfm1 UTSW 5 106,898,505 (GRCm38) missense probably damaging 0.96
R8968:Hfm1 UTSW 5 106,917,573 (GRCm38) missense probably benign 0.00
R9072:Hfm1 UTSW 5 106,898,280 (GRCm38) missense probably benign 0.04
R9073:Hfm1 UTSW 5 106,898,280 (GRCm38) missense probably benign 0.04
R9152:Hfm1 UTSW 5 106,841,745 (GRCm38) missense probably benign 0.01
R9234:Hfm1 UTSW 5 106,893,468 (GRCm38) missense probably benign
R9244:Hfm1 UTSW 5 106,874,900 (GRCm38) missense probably damaging 0.96
R9576:Hfm1 UTSW 5 106,874,072 (GRCm38) missense probably benign 0.00
R9649:Hfm1 UTSW 5 106,918,463 (GRCm38) missense possibly damaging 0.82
R9743:Hfm1 UTSW 5 106,874,259 (GRCm38) missense possibly damaging 0.55
R9782:Hfm1 UTSW 5 106,874,030 (GRCm38) missense probably benign 0.38
R9789:Hfm1 UTSW 5 106,917,480 (GRCm38) missense probably benign 0.00
Z1177:Hfm1 UTSW 5 106,871,820 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTCAATGAGATCTGGCACTAATAA -3'
(R):5'- TCACTTTCAGAGATAAACACAGATGAT -3'

Sequencing Primer
(F):5'- GTGGGTATAAGATCCTCACCCTAG -3'
(R):5'- GTCCCTTAAAAATGTAAAATGCT -3'
Posted On 2016-06-06